Canonical Allele Identifier: CA1030277075

Gene: MSH2

Linked Data

• gnomAD v3: 2-47430082-G-GTT
• gnomAD v4: 2-47430082-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47430083_47430084insTT , CM000664.2:g.47430083_47430084insTT	GRCh38
NC_000002.11:g.47657222_47657223insTT , CM000664.1:g.47657222_47657223insTT	GRCh37
NC_000002.10:g.47510726_47510727insTT	NCBI36
NG_007110.2:g.31960_31961insTT , LRG_218:g.31960_31961insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1276+142_1276+143insTT	ENSP00000495641.2:n.1276+142_1276+143insTT
ENST00000233146.7:c.1276+142_1276+143insTT MANE Select	ENSP00000233146.2:n.1276+142_1276+143insTT
ENST00000543555.6:c.1078+142_1078+143insTT	ENSP00000442697.1:n.1078+142_1078+143insTT
ENST00000644092.1:c.1276+142_1276+143insTT	ENSP00000496351.1:n.1276+142_1276+143insTT
ENST00000645339.1:c.1276+142_1276+143insTT	ENSP00000496441.1:n.1276+142_1276+143insTT
ENST00000645506.1:c.1276+142_1276+143insTT	ENSP00000495455.1:n.1276+142_1276+143insTT
ENST00000646415.1:c.1276+142_1276+143insTT	ENSP00000495543.1:n.1276+142_1276+143insTT
ENST00000233146.6:c.1276+142_1276+143insTT	ENSP00000233146.2:n.1276+142_1276+143insTT
ENST00000406134.5:c.1276+142_1276+143insTT	ENSP00000384199.1:n.1276+142_1276+143insTT
ENST00000543555.5:c.1078+142_1078+143insTT	ENSP00000442697.1:n.1078+142_1078+143insTT
ENST00000610696.4:c.1276+142_1276+143insTT	ENSP00000483159.1:n.1276+142_1276+143insTT
ENST00000613514.4:c.1276+142_1276+143insTT	ENSP00000484137.1:n.1276+142_1276+143insTT
ENST00000617333.3:c.*42+142_*42+143insTT	ENSP00000482468.1:n.*42+142_*42+143insTT
ENST00000617938.4:c.*248+142_*248+143insTT	ENSP00000481158.1:n.*248+142_*248+143insTT
ENST00000621359.2:c.1276+142_1276+143insTT	ENSP00000481416.1:n.1276+142_1276+143insTT
NM_000251.2:c.1276+142_1276+143insTT , LRG_218t1:c.1276+142_1276+143insTT	NP_000242.1:n.1276+142_1276+143insTT
NM_001258281.1:c.1078+142_1078+143insTT	NP_001245210.1:n.1078+142_1078+143insTT
XM_005264332.2:c.1276+142_1276+143insTT	XP_005264389.2:n.1276+142_1276+143insTT
XM_011532867.1:c.1276+142_1276+143insTT	XP_011531169.1:n.1276+142_1276+143insTT
XR_939685.1:n.1348+142_1348+143insTT
XM_005264332.4:c.1276+142_1276+143insTT	XP_005264389.2:n.1276+142_1276+143insTT
XM_011532867.2:c.1276+142_1276+143insTT	XP_011531169.1:n.1276+142_1276+143insTT
XR_001738747.2:n.1338+142_1338+143insTT
XR_939685.2:n.1338+142_1338+143insTT
NM_000251.3:c.1276+142_1276+143insTT MANE Select	NP_000242.1:n.1276+142_1276+143insTT